Gene Facts External Data Attribution

HGNC Symbol
MAP2K2 (HGNC:6842) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mitogen-activated protein kinase kinase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PRKMK2
Alias symbols
MEK2, MKK2
%HI
38.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.97(Read more about gnomAD pLI score)
LOEUF
0.33(Read more about gnomAD LOEUF score)
Cytoband
19p13.3
Genomic Coordinates
GRCh37/hg19: chr19:4090319-4124119 NCBI Ensembl UCSC
GRCh38/hg38: chr19:4090321-4124122 NCBI Ensembl UCSC
MANE Select Transcript
NM_030662.4 ENST00000262948.10 (Read more about MANE Select)
Function
Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). {ECO:0000250|UniProtKB:Q63932, ECO:00002... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15886
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)